title: A case of carbamylphosphate synthetase-I deficiency associated with secondary carnitine deficiency--L-carnitine treatment of CPS-I deficiency.
abstract: We describe a male infant with congenital hyperammonaemia due to partial carbamylphosphate synthetase-I (CPS-I) deficiency. At 21 days of age, he had convulsions and at 53 days of age hyperammonaemic coma. Therapy with sodium benzoate, L-arginine, essential amino acids, L-carnitine and peritoneal dialysis lowered the blood ammonia levels, and his clinical manifestations improved. The CPS-I activity in liver tissue obtained by open biopsy was about 25.6% of normal values. The serum and urine free carnitine levels in the patient decreased during the hyperammonaemic crisis and were low at 7 months of age. After oral administration of L-carnitine (10 mg/kg per day) at 7 months of age, the mean blood ammonia levels decreased significantly, accompanied by an increase in serum and urine free carnitine levels. We propose the use of L-carnitine therapy to prevent secondary carnitine deficiency in patients with CPS-I deficiency as well as ornithine transcarbamylase (OTC) deficiency.
authors.affiliation: Department of Paediatrics, Sapporo Medical College, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Mori
authors.forename: A
authors.initials: A
authors.lastname: Tsuchiyama
authors.forename: K
authors.initials: K
authors.lastname: Nagai
authors.forename: M
authors.initials: M
authors.lastname: Nagao
authors.forename: K
authors.initials: K
authors.lastname: Oyanagi
authors.forename: S
authors.initials: S
authors.lastname: Tsugawa
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology*; D000641:Ammonia / Q000097:blood*; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D002331:Carnitine / Q000097:blood / Q000172:deficiency / Q000627:therapeutic use* / Q000652:urine; D006801:Humans; D007223:Infant; D008297:Male
chemical_list: D000641:Ammonia; D002222:Carbamoyl-Phosphate Synthase (Ammonia); D002331:Carnitine